Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

JIMD reports

Showing results (831-840 of 1,250) with videos related to

Pageof 125
Sort By:
JIMD Reports|February 2, 2015
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian PeninsulaAna Marcão, María L Couce, Célia Nogueira, et al.
JIMD Reports|February 15, 2015
Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn ScreeningYin-Hsiu Chien, Jennifer L Goldstein, Wuh-Liang Hwu, et al.
JIMD Reports|February 15, 2015
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel MutationsJeannette L Usher, David B Ascher, Douglas E V Pires, et al.
JIMD Reports|February 22, 2015
Occurrence of Malignant Tumours in the Acute Hepatic PorphyriasEstefanía Lang, Martin Schäfer, Holger Schwender, et al.
JIMD Reports|May 23, 2014
Fabry disease: multidisciplinary evaluation after 10 years of treatment with agalsidase BetaPolitei Juan, Amartino Hernan, Schenone Andrea Beatriz, et al.
JIMD Reports|May 23, 2014
Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VIITsutomu Shimada, Shunji Tomatsu, Eriko Yasuda, et al.
JIMD Reports|March 4, 2015
Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic SignaturesStefanie Kung, Mark Walters, Peter Claes, et al.
JIMD Reports|November 7, 2022
Recent tPA administration can cause pseudo-hyperargininemia and may mimic arginase deficiency or arginine supplementationKristina P Cusmano-Ozog, Alicia K Renck, Christina G Tise
JIMD Reports|November 7, 2022
Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts <i>BCKDHA</i>: A case reportKatsuyuki Yokoi, Yoko Nakajima, Yuta Sudo, et al.
JIMD Reports|November 7, 2022
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study periodElis Tiivoja, Karit Reinson, Kai Muru, et al.
Pageof 125

Showing results (831-840 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|February 2, 2015
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian PeninsulaAna Marcão, María L Couce, Célia Nogueira, et al.
JIMD Reports|February 15, 2015
Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn ScreeningYin-Hsiu Chien, Jennifer L Goldstein, Wuh-Liang Hwu, et al.
JIMD Reports|February 15, 2015
Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel MutationsJeannette L Usher, David B Ascher, Douglas E V Pires, et al.
JIMD Reports|February 22, 2015
Occurrence of Malignant Tumours in the Acute Hepatic PorphyriasEstefanía Lang, Martin Schäfer, Holger Schwender, et al.
JIMD Reports|May 23, 2014
Fabry disease: multidisciplinary evaluation after 10 years of treatment with agalsidase BetaPolitei Juan, Amartino Hernan, Schenone Andrea Beatriz, et al.
JIMD Reports|May 23, 2014
Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VIITsutomu Shimada, Shunji Tomatsu, Eriko Yasuda, et al.
JIMD Reports|March 4, 2015
Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic SignaturesStefanie Kung, Mark Walters, Peter Claes, et al.
JIMD Reports|November 7, 2022
Recent tPA administration can cause pseudo-hyperargininemia and may mimic arginase deficiency or arginine supplementationKristina P Cusmano-Ozog, Alicia K Renck, Christina G Tise
JIMD Reports|November 7, 2022
Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts <i>BCKDHA</i>: A case reportKatsuyuki Yokoi, Yoko Nakajima, Yuta Sudo, et al.
JIMD Reports|November 7, 2022
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study periodElis Tiivoja, Karit Reinson, Kai Muru, et al.
Pageof 125